Homozygous NOTCH3 c.3373G > A (p.(Glu1125Lys)) in a consanguineous Chinese family presenting with vestibular migraine and epilepsy: Expanding the genotype-phenotype spectrum.

Abstract excerpt

Pathogenic variants in NOTCH3 are the main genetic cause of CADASIL, classically through disruption of cysteine residues within epidermal growth factor-like repeat (EGFr) domains. We report a consanguineous Han Chinese family in which two siblings carried a rare homozygous cysteine-sparing NOTCH3 variant (NM_000435.3: c.3373G > A; p.(Glu1125Lys)) presenting with vestibular migraine and epilepsy and severe...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to CADASIL
• Share to Consanguinity
• Share to East Asian People